Who was studied 170,548 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0534 lower (95% confidence interval 0.041-0.065); p = 2 × 10−18.
How common The C allele had a frequency of about 9% in the people studied.
Where it sits Chromosome 22, band 22q12.2 — in an intron of ASCC2.
What each result means
C/CPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Immature fraction of reticulocytes compared to the general population.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Immature fraction of reticulocytes.
T/TPublished research associates this genotype with typical/baseline likelihood of Immature fraction of reticulocytes — no copies of the reported risk allele.
rs249394 is a single position in the genome, in or near the ASCC2 gene. Published research associates it with immature fraction of reticulocytes. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs249394 linked to?
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
Does having rs249394 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs249394 come from?
GWAS Catalog, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.